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Focal Seizures in Patients With SCN1A Mutations.

Authors: Christopher L, McDonald; Russell P, Saneto; Lionel, Carmant; Márcio A, Sotero de Menezes;

Focal Seizures in Patients With SCN1A Mutations.

Abstract

The SCN1A gene has been implicated in the etiology of various forms of epilepsy. New research has linked this gene to specific types of epilepsy, all of which present in infancy or early childhood. This study examines the time course and pathology of pediatric patients who have a mutation in the SCN1A gene in order to open a discussion regarding the key trends of this form of epilepsy as well as important clinical considerations in management for patients who present with symptoms relating to the SCN1A mutations. We retrospectively examined 20 patients who presented to the clinic with focal seizures, as well as were positive for an SCN1A genetic mutation. Despite the small sample size, we were able to find important trends in the time course of the disorder as well as important areas of clinical practice that must be taken into consideration for these patients.

Keywords

Male, Models, Molecular, Epilepsy, Adolescent, Brain, Electroencephalography, NAV1.1 Voltage-Gated Sodium Channel, Young Adult, Phenotype, Treatment Outcome, Seizures, Child, Preschool, Humans, Anticonvulsants, Female, Genetic Predisposition to Disease, Child, Follow-Up Studies, Retrospective Studies

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    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
5
Average
Average
Top 10%
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